Open access
Sep 2026
De novo RYR1 variant c.7108_7109delinsAAGCC (p.Gly2370delinsLysPro) causes life-threatening malignant hyperthermia: reclassification from VUS to pathogenic
This study is the first to report and validate the pathogenicity of the RYR1 gene and provide definitive guidance for the lifelong anesthetic management of a 53-year-old male who developed fulminant MH during general anesthesia.
Yong Bai, Da-Bang Lei, Rong-Zhi Luo et al.
· Orphanet Journal of Rare Dis... · 0 citations